Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121434633
rs121434633
NTRK2
0.925 0.120 9 84955510 missense variant A/G snv
CUI: C3151303
Disease: Obesity, Hyperphagia, and Developmental Delay
Obesity, Hyperphagia, and Developmental Delay 		0.800 0
dbSNP: rs1554774973
rs1554774973
NTRK2
1.000 0.120 9 84955504 missense variant C/T snv
CUI: C3151303
Disease: Obesity, Hyperphagia, and Developmental Delay
Obesity, Hyperphagia, and Developmental Delay 		0.800 1.000 0 2004 2017
dbSNP: rs886041091
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv
CUI: C4693367
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 		0.800 0
dbSNP: rs1085308029
rs1085308029
NTRK2
1.000 0.120 9 84752019 stop gained G/T snv
CUI: C3151303
Disease: Obesity, Hyperphagia, and Developmental Delay
Obesity, Hyperphagia, and Developmental Delay 		0.700 0
dbSNP: rs886041091
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs886041091
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv
CUI: C0018552
Disease: Hamartoma
Hamartoma 		0.700 0
dbSNP: rs886041091
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
Reduced brain N-acetyl aspartate level by MRS 		0.700 0
dbSNP: rs886041091
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv
CUI: C0240595
Disease: Rotary Nystagmus
Rotary Nystagmus 		0.700 0
dbSNP: rs886041091
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv
CUI: C0238651
Disease: Ankle clonus
Ankle clonus 		0.700 0
dbSNP: rs886041091
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		0.700 0
dbSNP: rs886041091
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv
CUI: C0018681
Disease: Headache
Headache 		0.700 0
dbSNP: rs886041091
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs886041091
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv
CUI: C4023470
Disease: EEG with continuous slow activity
EEG with continuous slow activity 		0.700 0
dbSNP: rs886041091
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs886041091
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		0.700 0
dbSNP: rs886041091
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv
CUI: C4025573
Disease: Increased muscle fatiguability
Increased muscle fatiguability 		0.700 0
dbSNP: rs886041091
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.700 0
dbSNP: rs886041091
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		0.700 0
dbSNP: rs886041091
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv
CUI: C4476723
Disease: Anti-multiple nuclear dots antibody positivity
Anti-multiple nuclear dots antibody positivity 		0.700 0
dbSNP: rs886041091
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs886041091
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.700 0